ClinVar Miner

Submissions for variant NM_001754.4(RUNX1):c.557T>A (p.Val186Asp) (rs797045927)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Myeloid Malignancy Variant Curation Expert Panel RCV000192486 SCV000965621 uncertain significance Familial platelet disorder with associated myeloid malignancy 2019-07-30 reviewed by expert panel curation The NM_001754.4:c.557T>A (p.Val186Asp) missense variant is completely absent from all population databases with at least 20x coverage for RUNX1 (PM2). It has a REVEL score >0.75 (0.953) (PP3). This variant affects one of the residues (AA 105-204) within the RHD (PM1_Supporting). In summary, the clinical significance of this variant is uncertain. ACMG/AMP criteria applied, as specified by the Myeloid Malignancy Variant Curation Expert Panel for RUNX1: PM2, PP3, PM1_Supporting.
Genetic Services Laboratory, University of Chicago RCV000192486 SCV000248756 likely pathogenic Familial platelet disorder with associated myeloid malignancy 2015-06-29 criteria provided, single submitter clinical testing

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